S. Ikegawa

M. K. Kim, B. Choi, Wei-Chiao Chang, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis

M. Emi, S. Ikegawa, I. Kou, 2009, Journal of Bone and Mineral Metabolism.

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

Yusuke Nakamura, S. Ikegawa, A. Iida, 2012, Neurobiology of Aging.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

A. Pagnamenta, A. Battaglia, D. Keays, 2015, Journal of Medical Genetics.

Integrative genomic analysis for the functional roles of ITPKC in bone mineral density

Wei-Chiao Chang, S. Ikegawa, E. Cho, 2018, Bioscience reports.

Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene.

T. Kubo, Y. Mikami, M. Nakajima, 2006, Biochemical and biophysical research communications.

TRPV4‐pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

T. Cho, K. Shimizu, S. Ikegawa, 2012, American journal of medical genetics. Part A.

TRPV4-pathy, a novel channelopathy affecting diverse systems

T. Cho, S. Ikegawa, A. Superti-Furga, 2010, Journal of Human Genetics.

Genetic risk factors for intervertebral disc degeneration

You-Qiang Song, P. Sham, K. Luk, 2007 .

Carminerin contributes to chondrocyte calcification during endochondral ossification

Kozo Nakamura, Y. Azuma, S. Kato, 2006, Nature Medicine.

Microtubule Stabilization Enhances the Chondrogenesis of Synovial Mesenchymal Stem Cells

D. Shi, S. Ikegawa, Xingquan Xu, 2021, Frontiers in Cell and Developmental Biology.

Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese

D. Shi, S. Ikegawa, Q. Jiang, 2011, Arthritis Research & Therapy.

Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

D. Shi, Jia Wei, Baorui Liu, 2008, Arthritis research & therapy.

FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

N. Matsumoto, H. Saitsu, T. Mizuguchi, 2007, American journal of medical genetics. Part A.

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes

R. Fodde, T. Ogata, N. Matsumoto, 2006, American journal of medical genetics. Part A.

Association Study of Polymorphisms rs4552569 and rs17095830 and the Risk of Ankylosing Spondylitis in a Taiwanese Population

Wei-Chiao Chang, S. Ikegawa, J. Wei, 2013, PloS one.

Decrease in serum nucleotide pyrophosphatase activity in ankylosing spondylitis.

S. Ikegawa, Y. Matsusue, H. Okabe, 2003, Rheumatology.

TGF-β and Genetic Skeletal Diseases

N. Matsumoto, M. Nakashima, S. Ikegawa, 2013 .

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

J. Beckmann, O. Ohara, T. Hirano, 2008, PloS one.

Shiro Ikegawa and Kazuyuki Enzymes for Sulfated Glycosaminoglycans Mutations in Genes Encoding Biosynthetic Human Genetic Disorders

S. Ikegawa, Shuji Mizumoto, K. Sugahara, 2013 .

Shuji Mizumoto , Shiro Ikegawa and Kazuyuki Sugahara Enzymes for Sulfated Glycosaminoglycans Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic

S. Ikegawa, Shuji Mizumoto, K. Sugahara, 2013 .

Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans*

S. Ikegawa, Shuji Mizumoto, K. Sugahara, 2013, The Journal of Biological Chemistry.

A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.

S. Ahmed, N. Miyake, S. Ikegawa, 2015, The Journal of clinical endocrinology and metabolism.

Human iPSC-derived hypertrophic chondrocytes reveal a mutation-specific unfolded protein response in chondrodysplasias

T. Futami, J. Toguchida, Z. Wang, 2020, bioRxiv.

Bone biopsy and densitometry findings in a child with Camurati–Engelmann disease

O. Mäkitie, S. Ikegawa, H. Kröger, 2007, Clinical Rheumatology.

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia

Long Guo, N. Matsumoto, H. Ohashi, 2022, Clinical genetics.

The genetics of common degenerative skeletal disorders: osteoarthritis and degenerative disc disease.

S. Ikegawa, 2013, Annual review of genomics and human genetics.

Genetic study on developmental dysplasia of the hip

D. Shi, S. Ikegawa, Q. Jiang, 2012, European journal of clinical investigation.

Replication of association of the D-repeat polymorphism in asporin with osteoarthristis

A. Takahashi, N. Kamatani, S. Ikegawa, 2006, Arthritis research & therapy.

Association study of COL9A2 with lumbar disc disease in the Japanese population

T. Tsunoda, T. Kubo, Y. Toyama, 2006, Journal of Human Genetics.

Genome‐wide meta‐analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci

Todd A. Johnson, Yared H. Kidane, J. Kere, 2018, Human molecular genetics.

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Long Guo, T. Nakashima, N. Matsumoto, 2021, Nature Communications.

Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study

Y. Okada, K. Matsuda, K. Matsuo, 2022, Annals of the Rheumatic Diseases.

Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development

Ye Guang Chen, Y. Geng, Xiang Gao, 2011, Proceedings of the National Academy of Sciences.

TRPV1 alleviates osteoarthritis by inhibiting M1 macrophage polarization via Ca2+/CaMKII/Nrf2 signaling pathway

D. Shi, S. Ikegawa, Xingquan Xu, 2021, Cell Death & Disease.

Zonal gene expression of chondrocytes in osteoarthritic cartilage.

H. Mitomi, M. Nakajima, N. Fukui, 2008, Arthritis and rheumatism.

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

T. Yang, S. Ikegawa, W. Xia, 2022, BMC medical genomics.

University of Southern Denmark Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis Grauers,

A. Danielsson, C. Wise, A. Grauers, 2018 .

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.

H. Masuya, S. Wakana, T. Noda, 2007, Human molecular genetics.

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type

H. Masuya, S. Wakana, T. Kudo, 2011, Mammalian Genome.

Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.

H. Masuya, S. Wakana, S. Ikegawa, 2015, Biochemical and biophysical research communications.

Ectopic expression of Klotho in fibroblast growth factor 23 (FGF23)-producing tumors that cause tumor-induced rickets/osteomalacia (TIO)

H. Mano, M. Nangaku, M. Fukayama, 2018, Bone reports.

Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population

K. Malizos, A. Tsezou, P. Makrythanasis, 2008, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes

C. Chung, Hae-Ryong Song, S. Y. Kim, 2011, American journal of medical genetics. Part A.

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers

S. Ikegawa, T. Shimada, A. Watanabe, 2011, Journal of Human Genetics.

The phenotypic spectrum of COL2A1 mutations

H. Ohashi, S. Ikegawa, N. Haga, 2005, Human mutation.

Identification of sequence polymorphisms in CALM2 and analysis of association with hip osteoarthritis in a Japanese population

Yusuke Nakamura, S. Ikegawa, A. Iida, 2010, Journal of Bone and Mineral Metabolism.

Ectopic Expression of Ptf1a Induces Spinal Defects, Urogenital Defects, and Anorectal Malformations in Danforth's Short Tail Mice

Yusuke Nakamura, K. Abe, K. Yamamura, 2013, PLoS genetics.

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

C. Khor, S. Ikegawa, S. Siddiqi, 2022, BMC Musculoskeletal Disorders.

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

Y. Toyama, K. Chiba, H. Ohashi, 2008, Journal of Human Genetics.

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia

Y. Miyamoto, S. Ikegawa, G. Nishimura, 2006, American journal of medical genetics. Part A.

Mapping of a gene responsible for twy (tip-toe walking Yoshimura), a mouse model of ossification of the posterior longitudinal ligament of the spine (OPLL)

Yusuke Nakamura, S. Ikegawa, H. Moriya, 1998, Mammalian Genome.

Recapitulating the human segmentation clock with pluripotent stem cells

Long Guo, Michiko Nakamura, Miki Ebisuya, 2020, Nature.

Spine and Rib Abnormalities and Stature in Spondylocostal Dysostosis

A. Hata, Y. Makita, S. Ikegawa, 2006, Spine.

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

H. Kayserili, N. Elçioglu, H. Ohashi, 2013, Human mutation.

Crim1C140S mutant mice reveal the importance of cysteine 140 in the internal region 1 of CRIM1 for its physiological functions

Long Guo, Y. Gondo, K. Tomii, 2019, Mammalian Genome.

An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes

Y. Gondo, T. Murata, R. Fukumura, 2016, Experimental animals.

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia

A. Takahashi, N. Matsumoto, Hae-Ryong Song, 2011, Journal of Human Genetics.

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

N. Matsumoto, G. Baynam, T. Cho, 2010, Journal of Medical Genetics.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Hae-Ryong Song, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine

H. Baba, Kozo Nakamura, M. Matsumoto, 2006, Human Genetics.

TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

Long Guo, T. Nakashima, Z. Wang, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mechanisms for Asporin Function and Regulation in Articular Cartilage*

K. Miyazono, M. Nakajima, S. Ikegawa, 2007, Journal of Biological Chemistry.

TRPV4‐associated skeletal dysplasias

S. Ikegawa, B. Zabel, A. Superti-Furga, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN

S. Tsuji, G. Sobue, M. Kubo, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

with Adolescent Idiopathic Scoliosis

Y. Kamatani, M. Kubo, A. Takahashi, 2015 .

A Functional SNP in BNC 2 Is Associated with Adolescent Idiopathic Scoliosis

Y. Kamatani, M. Kubo, A. Takahashi, 2022 .

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

R. Hennekam, H. Tonoki, R. Hennekam, 2010, Journal of Medical Genetics.

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Long Guo, N. Matsumoto, N. Elçioglu, 2017, Journal of Human Genetics.

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

S. Nelson, B. Merriman, D. Rimoin, 2008, Nature Genetics.

PAPSS2 mutations cause autosomal recessive brachyolmia

N. Matsumoto, N. Elçioglu, T. Cho, 2012, Journal of Medical Genetics.

Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

A. Mégarbané, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

A mild form of pseudoachondroplasia: minimal epi-metaphyseal involvement of long bones.

S. Ikegawa, M. Kimizuka, K. Nakamura, 1998, European journal of radiology.

Optineurin mutations in Japanese amyotrophic lateral sclerosis

Yusuke Nakamura, M. Kubo, N. Hosono, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

A. Singleton, K. Fischbeck, A. Vanderver, 2019, American journal of human genetics.

Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity

A. Janecke, S. Ikegawa, T. Müller, 2017, Human mutation.

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

Y. Iwamoto, S. Ikegawa, G. Nishimura, 2016, Human Genome Variation.

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

R. Kosaki, Y. Makita, S. Ikegawa, 2004, Journal of Medical Genetics.

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Long Guo, N. Matsumoto, Z. Wang, 2020, Journal of Human Genetics.

Society for translational medicine-expert consensus on the treatment of osteoarthritis

Freddie H. Fu, D. Shi, N. Clement, 2019, Annals of Joint.

Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias

T. Futami, J. Toguchida, S. Ikegawa, 2021, Stem cell reports.

Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era

S. Ikegawa, 2006, Journal of Human Genetics.

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

H. Ohashi, S. Ikegawa, G. Nishimura, 2006, Clinical Rheumatology.

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia

H. Ohashi, Y. Miyamoto, S. Ikegawa, 2005, Human Genetics.

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia

R. Kosaki, H. Ohashi, S. Ikegawa, 2005, American journal of medical genetics. Part A.

A new patient with Lowry–Wood syndrome with mild phenotype

N. Brunetti‐Pierri, G. Andria, S. Ikegawa, 2003, American journal of medical genetics. Part A.

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia

Kozo Nakamura, N. Brunetti‐Pierri, H. Ohashi, 2002, Human Genetics.

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

Yusuke Nakamura, Y. Fukushima, H. Ohashi, 1998, Human Genetics.

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

R. Kosaki, H. Ohashi, S. Ikegawa, 2004, Human mutation.

Identification of a quantitative trait locus for spontaneous osteoarthritis in STR/ort mice

Ken Watanabe, Y. Miyamoto, S. Ikegawa, 2012, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Single cell RNA-seq analysis identifies ferroptotic chondrocyte cluster and reveals TRPV1 as an anti-ferroptotic target in osteoarthritis

D. Shi, S. Ikegawa, Yuan Liu, 2022, EBioMedicine.

Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation

H. Kayserili, N. Matsumoto, N. Miyake, 2014, American journal of medical genetics. Part A.

Expression, regulation and function of asporin, a susceptibility gene in common bone and joint diseases.

S. Ikegawa, 2008, Current medicinal chemistry.

RSPO2 defines a distinct undifferentiated progenitor in the tendon/ligament and suppresses ectopic ossification

S. Maeda, R. Chijimatsu, Y. Oshima, 2022, Science advances.

Animal Cytogenetics and Comparative Mapping

S. Ikegawa, Y. Koshizuka, M. Sano, 2002 .

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

Y. Toyama, M. Shiina, K. Ogata, 2013, PloS one.

Association Between Vitamin A Intake and Disease Severity in Early-Onset Heterotopic Ossification of the Posterior Longitudinal Ligament of the Spine

N. Iwasaki, T. Kaito, S. Ikegawa, 2021, Global spine journal.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Dongsup Kim, W. Park, K. Girisha, 2016, American journal of human genetics.

Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome

Y. Fukushima, N. Matsumoto, M. Shiina, 2010, Human mutation.

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

N. Matsumoto, M. Shiina, K. Ogata, 2013, Journal of Human Genetics.

Modeling the Human Segmentation Clock with Pluripotent Stem Cells

Long Guo, Michiko Nakamura, Miki Ebisuya, 2019, bioRxiv.

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

A. Saito, H. Ohashi, S. Ikegawa, 2015, Human molecular genetics.

Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin.

Y. Nakamura, S. Ikegawa, T. Toda, 1996, Genomics.

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes

S. Ikegawa, N. Tsumaki, H. Sawai, 2014, Nature.

High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis

Yusuke Nakamura, S. Ikegawa, H. Kizawa, 2006, Journal of Human Genetics.

Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta

C. Ki, N. Matsumoto, Y. Sohn, 2015, Human mutation.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

A. Nordgren, P. Shannon, D. Chitayat, 2017, Scientific Reports.

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)].

F. Hosoda, M. Ohki, S. Ikegawa, 1998, American journal of medical genetics.

From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R

Long Guo, S. Ikegawa, 2021, Journal of Human Genetics.

Spondyloepiphyseal dysplasia tarda. The autosomal recessive form in two sisters.

S. Ikegawa, 1993, Archives of orthopaedic and trauma surgery.

Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis.

Cornelia M van Duijn, André G Uitterlinden, Jeanine J Houwing-Duistermaat, 2008, Human molecular genetics.

A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis

Yusuke Nakamura, Qing Jiang, Toshikazu Kubo, 2007, Nature Genetics.

Genetics of Ossification of the Posterior Longitudinal Ligament of the Spine: A Mini Review

S. Ikegawa, 2014, Journal of bone metabolism.

Replication studies in various ethnic populations do not support the association of the HIF-2α SNP rs17039192 with knee osteoarthritis

D. Shi, A. Takahashi, P. Norman, 2011, Nature Medicine.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Long Guo, N. Matsumoto, N. Elçioglu, 2017, Human Genome Variation.

Dinucleotide repeat polymorphism on chromosome 9q32

Yusuke Nakamura, S. Ikegawa, T. Toda, 1995, Japanese Journal of Human Genetics.

Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)‐Mediated UNCX Expression

H. Okamoto, Long Guo, C. Terao, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes

Y. Nakamura, S. Ikegawa, Y. Koshizuka, 2000, Cytogenetic and Genome Research.

Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP)

Yusuke Nakamura, K. Takaoka, S. Ikegawa, 1999, Journal of Human Genetics.

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability

D. Schlessinger, G. Pruijn, R. Nagaraja, 2007, American journal of medical genetics. Part A.

CDC5L promotes early chondrocyte differentiation and proliferation by modulating pre-mRNA splicing of SOX9, COL2A1, and WEE1

S. Maeda, N. Taniguchi, M. Nakajima, 2021, The Journal of biological chemistry.

Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.

M. Nakajima, H. Ohashi, S. Ikegawa, 2016, American journal of human genetics.

A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine

H. Baba, K. Uchida, K. Ikari, 2012, Journal of Bone and Mineral Metabolism.

Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)

Kozo Nakamura, Y. Nakamura, K. Takaoka, 1999, Human Genetics.

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation

S. Ikegawa, G. Nishimura, H. Minakami, 2012, American journal of medical genetics. Part A.

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

Long Guo, N. Matsumoto, Z. Wang, 2021, Journal of Human Genetics.

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

D. Rimoin, B. Kerr, H. Ohashi, 2007, Journal of Medical Genetics.

Metaphyseal dysplasia of Braun–Tinschert type: Report of a Japanese girl

Y. Kuroda, S. Ikegawa, G. Nishimura, 2006, American journal of medical genetics. Part A.

PLAP-1/Asporin, a Novel Negative Regulator of Periodontal Ligament Mineralization*

S. Ikegawa, S. Toyosawa, S. Murakami, 2007, Journal of Biological Chemistry.

Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus.

Y. Okada, Yusuke Nakamura, Y. Kochi, 2010, Human molecular genetics.

Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi–Hünermann–Happle syndrome

S. Ikegawa, 2004, American journal of medical genetics. Part A.

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

T. Ogata, H. Ohashi, S. Ikegawa, 2000, American journal of medical genetics.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis

Yusuke Nakamura, Akihiro Kotani, Akira Kawakami, 2005, Nature Genetics.

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

Hiroshi Sekiya, Shinichi Kondo, Atsushi Saito, 2009, Nature Cell Biology.

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report

S. Ikegawa, N. Haga, G. Nishimura, 2018, BMC Research Notes.

A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.

Toshihiro Tanaka, K. Ozaki, T. Kubo, 2008, American journal of human genetics.

Thoracic disc herniation in spondyloepiphyseal dysplasia. A report on two cases.

Y. Hoshino, S. Ikegawa, M. Shiba, 1993, Acta orthopaedica Scandinavica.

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.

J. Rommens, O. Mäkitie, W. Cole, 2007, Bone.

A genome‐wide association study identifies new genes associated with developmental dysplasia of the hip

D. Shi, S. Ikegawa, Wenqiang Yan, 2018, Clinical genetics.

Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families

Lan Li, D. Shi, S. Ikegawa, 2016, Human Genome Variation.

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India

K. Thangaraj, C. Wise, Swarkar Sharma, 2016, Scientific Reports.

Identification of novel LFNG mutations in spondylocostal dysostosis

Long Guo, M. Matsumoto, Kota Watanabe, 2018, Journal of Human Genetics.

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

In Ho Choi, Su Jeong Song, Daehyun Jeon, 2012, American journal of human genetics.

E. Tobias, G. Mortier, T. Iwaya, 2007, American journal of medical genetics. Part A.

SMOC1 is essential for ocular and limb development in humans and mice.

N. Niikawa, E. Chouery, A. Mégarbané, 2011, American journal of human genetics.

A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility

Yusuke Nakamura, Kazuhiko Yamamoto, Tatsuhiko Tsunoda, 2010, Nature Genetics.

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese

Y. Kamatani, M. Kubo, Y. Momozawa, 2019, Nature Communications.

Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon : is direct sequencing so reliable?

S. Ikegawa, A. Mabuchi, Shiro Ikegawa, 2002, Human Genetics.

Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints

Kozo Nakamura, Kota Miyoshi, S. Ikegawa, 2001, Journal of Human Genetics.

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Tom R. Gaunt, Alexander E. Lopez, Laurent F. Thomas, 2021, Cell.

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

N. Tanaka, H. Ohashi, S. Ikegawa, 2002, Human Genetics.

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

Karl K. Murphy, D. Gordon, N. Ahituv, 2015, Nature Communications.

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis

N. Matsumoto, M. Nakajima, M. Matsumoto, 2017, Human mutation.

Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel WD-repeat gene family.

Y. Nakamura, S. Ikegawa, Y. Koshizuka, 2001, Genomics.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Makoto Nakamura, Paola Benaglio, Shinji Ueno, 2013, Proceedings of the National Academy of Sciences.

Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

M. Weirauch, Y. Okada, K. Matsuda, 2020, Annals of the Rheumatic Diseases.

Identification of novel FBN1 variations implicated in congenital scoliosis

Zhihong Wu, Shuyang Zhang, G. Qiu, 2019, Journal of Human Genetics.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

T. Nakazawa, Z. Wang, N. Matsumoto, 2016, PloS one.

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Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3

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Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells

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Molecular Classification of Knee Osteoarthritis

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SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population

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Common Variants in a Novel Gene, FONG on Chromosome 2q33.1 Confer Risk of Osteoporosis in Japanese

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Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

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A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction

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The first study of epidemiology of adolescent idiopathic scoliosis shows lower prevalence in females of Jammu and Kashmir, India.

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Cloning and characterization of ASH2L and Ash2l, human and mouse homologs of the Drosophila ash2 gene

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Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.

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A Replication Study for Association of 53 Single Nucleotide Polymorphisms in a Scoliosis Prognostic Test With Progression of Adolescent Idiopathic Scoliosis in Japanese

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Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

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Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

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Exome Sequencing in Monogenic Forms of Rickets

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Dysosteosclerosis is also caused by TNFRSF11A mutation

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Recent advances in association studies of osteoarthritis susceptibility genes

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A functional SNP in EDG2 increases susceptibility to knee osteoarthritis in Japanese.

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Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population

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Truncating mutations of RB1CC1 in human breast cancer

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A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

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Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

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rs10865331 Associated with Susceptibility and Disease Severity of Ankylosing Spondylitis in a Taiwanese Population

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New Sequence Variants in HLA Class II/III Region Associated with Susceptibility to Knee Osteoarthritis Identified by Genome-Wide Association Study

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

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Genomic study of ossification of the posterior longitudinal ligament of the spine

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Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis

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Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9

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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

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Mutations in the N‐terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia

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A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst.

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ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis

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Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

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SNPs in BRAP associated with risk of myocardial infarction in Asian populations

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An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12

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Testing the druggable endothelial differentiation gene 2 knee osteoarthritis genetic factor for replication in a wide range of sample collections

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replication in a wide range of sample collections gene 2 knee osteoarthritis genetic factor for Testing the druggable endothelial differentiation

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A large‐scale replication study for the association of rs17039192 in HIF‐2α with knee osteoarthritis

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The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32

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A Short History of the Genetic Study of OPLL

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Structure of the gene encoding human colligin-2 (CBP2).

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Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

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Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.

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Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

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Regulatory polymorphisms in EGR 2 are associated with susceptibility to systemic lupus erythematosus

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Double‐layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation

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Association of CYP17 with HLA‐B27‐negative seronegative spondyloarthropathy in Japanese males

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Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects

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A case of multiple epiphyseal dysplasia complicated by unilateral Perthes' disease.

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Metachondromatosis: a report of two cases in a family.

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An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

J. Kere, You-Qiang Song, Zhihong Wu, 2018, Scientific Reports.

Ectopic expression of Klotho in fibroblast growth factor 23 (FGF23)-producing tumors that cause tumor-induced rickets/osteomalacia (TIO)

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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

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Genome-wide DNA methylation profile implicates potential cartilage regeneration at the late stage of knee osteoarthritis.

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SMOC1 is essential for ocular and limb development in humans and mice.

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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

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Interrogating Causal Effects of Body Composition and Puberty‐Related Risk Factors on Adolescent Idiopathic Scoliosis: A Two‐Sample Mendelian Randomization Study

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SIK3 is essential for chondrocyte hypertrophy during skeletal development in mice

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Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.

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GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

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